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2016 ; 5
(1
): 1703
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Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele
#MMPMID27757375
Saraç M
; Önalan E
; Bakal Ü
; Tartar T
; Ayd?n M
; Orman A
; Tektemur A
; Ta?k?n E
; Erol FS
; Kazez A
Springerplus
2016[]; 5
(1
): 1703
PMID27757375
show ga
BACKGROUND: To evaluate whether there is an association between single nucleotide
polymorphisms in magnesium-permeable TRPM6 ion channel and development of
meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC,
along with age- and gender-matched controls. DNA collected from whole blood was
analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E;
Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg(2+) and calcium
levels were also examined. RESULTS: A statistically significant difference in the
distribution of rs2274924 genotypes (p = 0.049) was observed between the groups.
Decreases in the AA genotype, and increases in the AG heterozygous genotype were
also detected in the study group. The distribution of polymorphisms in the
rs3750425 genotype and alleles was not statistically different between groups.
Serum Mg(2+) levels were lower in the GG genotype of rs3750425 compared with the
GA and AA genotypes (p = 0.003). CONCLUSIONS: A statistically significant
difference in rs3750425 genotypes was observed between the patients with MMC and
the controls, which corresponded to lower serum Mg(2+) concentrations in these
patients. Taken together, these results suggest that genetic variations in the
Mg(2+)-permeable TRPM6 ion channel may play a role in the etiopathogenesis of MMC
during embryonic development.